ClinVar Miner

Submissions for variant NM_001080414.4(CCDC88C):c.5087T>C (p.Leu1696Pro)

gnomAD frequency: 0.00212  dbSNP: rs77154172
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517979 SCV000612707 uncertain significance not specified 2016-10-31 criteria provided, single submitter clinical testing
Invitae RCV000916016 SCV001061245 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000916016 SCV001747114 likely benign not provided 2021-05-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905294 SCV004723059 likely benign CCDC88C-related condition 2020-10-16 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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